染色体易位
染色体重排
融合基因
突变
淋巴细胞白血病
生物
基因重排
癌症研究
细胞遗传学
白血病
遗传学
核型
基因
染色体
作者
Lauren J. Miller,Vasiliki Leventaki,Paul Harker‐Murray,Holli M. Drendel,Kathleen M. Bone
标识
DOI:10.1016/j.cancergen.2021.12.005
摘要
The KMT2A::AFF3 fusion, t(2;11)(q11.2;q23.2), is a very rare fusion occurring in pediatric B-cell acute lymphoblastic leukemia (B-ALL). Our patient is a 2-year-old male who presented with three weeks of intermittent fever. Bone marrow biopsy showed 82% blasts and cytogenetic analysis demonstrated a complex 3-way chromosomal rearrangement involving KMT2A and an unknown fusion partner. Molecular testing identified the fusion partner as AFF3, a FLT3-TKD non-D835 mutation, and an NF1 mutation. This case demonstrates a highly complex three-way variant translocation resulting in the rare KMT2A::AFF3 fusion with only a few cases previously described in the literature.
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